Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors

Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors

We report a case of Klippel Trenaunay Syndrome that was monitored both clinically and molecularly over a period of 9 years. A somatic mosaic mutation of PIK3CA (p(E545G)) was identified using both cfDNA NGS liquid biopsy and tissue biopsy. At the age of 56, due to intervening clonal mutations in PIK...

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Bibliographic Details
Main Authors: Viola Bianca Serio, Maria Palmieri, Simona Innamorato, Lorenzo Loberti, Chiara Fallerini, Francesca Ariani, Enrica Antolini, Jasmine Covarelli, Massimo Vaghi, Elisa Frullanti, Alessandra Renieri, Anna Maria Pinto
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-08-01
Series:Frontiers in Genetics
Subjects:
NGS-liquid biopsy
Klippel-Trenaunay Syndrome
squamous cell carcinoma adenocarcinoma
tailored therapy
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1213283/full

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https://www.frontiersin.org/articles/10.3389/fgene.2023.1213283/full

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